anaemia and low retics>100 nmol/mg Hb/h>1% or adjusted for agenegative

absence or reduction beyond proerythroblastsnegativenegative

Presentation

Before first transfusion:•FBC and reticulocytes•eADA•HPLC•Serology for parvovirus, hepatitis B, hepatitis C and HIV

Diagnosis:•Bone marrow biopsy:

• aspirate and trephine• cytogenetic analysis and FISH• parvovirus PCR

•Mutation analysis

• Examine for skeletal abnormalities: palate, limbs, spine and scapula• Testicles• USS abdomen• echocardiogramme• hearing test• ophthalmology review

Hepatitis B vaccine

Transfusions minimum to 12 months

Investigate immune system:•lymphocyte subsets•immunoglobulins•Immunoglobulin subclasses•responses to antibodies

MMRChickenpox vaccine

trial of prednisolone 2 mg/kg for four weeks

Response to steroids wean alternate day over 8 weeks

2 mg/kg alternate days

slow reduction over >6 months typical 1 mg every 6 weeks

prednisolone ≤0.5 mg/kg alternate days FerriScan under sedation

5 to 10 years of age: MRI T2*

Every 5 years: DEXA scan

Unresponsive to steroids

wean over two weeks

Transfusions:•according to exercise tolerance and growth•<250 mL/kg/year

2 years of age:•FerriScan under sedation•liver biopsy•bone marrow biopsy

Every five years:•DEXA scan•MRI T2*

Sibling BMT

monitor filmvitamin D

bone marrow biopsy if cytopenia

yearly endocrinology review from 10 years of age until end of pubertal development